Variant report

Variant	rs73110038
Chromosome Location	chr1:221642227-221642228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57553315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61136835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100455	0.97[AFR][1000 genomes]
rs73100460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221636400-221651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221641400-221642600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:221641800-221644000	Enhancers	NHDF-Ad	bronchial
4	chr1:221642200-221651200	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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